A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Karen J. Low; M. James; P. M. Sharples; M. Eaton; S. Jenkinson; D. D.D. Study; S. F. Smithson

doi:10.1016/j.seizure.2018.01.013

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

Karen J. Low, M. James, P. M. Sharples, M. Eaton, S. Jenkinson, D. D.D. Study, S. F. Smithson^*

^*Corresponding author for this work

Research output: Contribution to journal › Article (Academic Journal) › peer-review

10 Citations (Scopus)

Original language	English
Pages (from-to)	1-3
Number of pages	3
Journal	Seizure
Volume	56
DOIs	https://doi.org/10.1016/j.seizure.2018.01.013
Publication status	Published - Mar 2018

Bibliographical note

Funding Information:
We thank the patient and his family for their helpful participation in this work and all colleagues who have contributed to the data presented here. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Welcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Welcome Trust or the Department of Health. The study has UK Research Ethics Committee approval ( 10/H0305/83 , granted by the Cambridge South REC , and GEN/284/12 granted by the Republic of Ireland REC ). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network.

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title = "A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay",

author = "Low, {Karen J.} and M. James and Sharples, {P. M.} and M. Eaton and S. Jenkinson and Study, {D. D.D.} and Smithson, {S. F.}",

note = "Funding Information: We thank the patient and his family for their helpful participation in this work and all colleagues who have contributed to the data presented here. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Welcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Welcome Trust or the Department of Health. The study has UK Research Ethics Committee approval ( 10/H0305/83 , granted by the Cambridge South REC , and GEN/284/12 granted by the Republic of Ireland REC ). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network. ",

year = "2018",

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doi = "10.1016/j.seizure.2018.01.013",

language = "English",

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T1 - A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

AU - Low, Karen J.

AU - James, M.

AU - Sharples, P. M.

AU - Eaton, M.

AU - Jenkinson, S.

AU - Study, D. D.D.

AU - Smithson, S. F.

N1 - Funding Information: We thank the patient and his family for their helpful participation in this work and all colleagues who have contributed to the data presented here. The DDD study presents independent research commissioned by the Health Innovation Challenge Fund [grant number HICF-1009-003 ], a parallel funding partnership between the Wellcome Trust and the Department of Health , and the Welcome Trust Sanger Institute [grant number WT098051 ]. The views expressed in this publication are those of the author(s) and not necessarily those of the Welcome Trust or the Department of Health. The study has UK Research Ethics Committee approval ( 10/H0305/83 , granted by the Cambridge South REC , and GEN/284/12 granted by the Republic of Ireland REC ). The research team acknowledges the support of the National Institute for Health Research , through the Comprehensive Clinical Research Network.

PY - 2018/3

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DO - 10.1016/j.seizure.2018.01.013

M3 - Article (Academic Journal)

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AN - SCOPUS:85041659614

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VL - 56

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JO - Seizure

JF - Seizure

ER -

A novel PIGA variant associated with severe X-linked epilepsy and profound developmental delay

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